Cellosaurus cell line HPIi004-B (CVCL

Cross-references
Cell line name	HPIi004-B
Synonyms	iPS-5964-R6
Accession	CVCL_C0ZG
Resource Identification Initiative	To cite this cell line use: HPIi004-B (RRID:CVCL_C0ZG)
Comments	From: Harry Perkins Institute of Medical Research, University of Western Australia; Nedlands; Australia. Population: Caucasian; Romani. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 129; ACTA1; Simple; p.Arg39Ter (c.121C>T); Zygosity=Homozygous (PubMed=35728440).
Disease	Nemaline myopathy 3 (NCIt: C129870) Typical nemaline myopathy (ORDO: Orphanet_171436)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C0ZF ! HPIi004-A
Sex of cell	Male
Age at sampling	1M
Category	Induced pluripotent stem cell
Publications	PubMed=35728440; DOI=10.1016/j.scr.2022.102830 Suleski I.S., Smith R., Vo C., Scriba C.K., Saker S., Larmonier T., Malfatti E., Romero N.B., Houweling P.J., Nowak K.J., Laing N.G., Taylor R.L., Clayton J.S. Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene. Stem Cell Res. 63:102830-102830(2022)
Cell line databases/resources	hPSCreg; HPIi004-B
Encyclopedic resources	Wikidata; Q114311637
Entry history
Entry creation	22-Sep-2022
Last entry update	29-Jun-2023
Version number	4